The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.

Bressan, Elisangela; Meechoovet, Bessie; Savytska, Natalia; Reed, Xylena; Hutchins, Elizabeth; Craig, David W; Finkbeiner, Steven; Logemann, Amber; Hjelm, Brooke E; Heutink, Peter; Dalgard, Clifton L; Gibbs, J Raphael; Cobb, Melanie M; Hernandez, Dena Michelle Godwin; Li, Yan; Bröer, Stefanie; Antone, Jerry; Van Keuren-Jensen, Kendall; Pantazis, Caroline B; Daida, Kensuke; Billingsley, Kimberley J; Sivakumar, Ramiyapriya; Pitz, Vanessa; Alves Fernandes, Noemia Rita; Berghausen, Joos; Blauwendraat, Cornelis; Webb, Michelle G; Alsop, Eric; Grenn, Francis P; Violich, Ivo; Rizzu, Patrizia; Nalls, Mike; Center, American Genome; Courtright-Lim, Amanda; Barch, Mariya; Reiman, Rebecca; Cookson, Mark R; Beilina, Alexandra; Patel, Dhairya; Illarionova, Anastasia; Kitchen, Robert; Bansal, Vikas; Singleton, Andrew B

doi:10.1016/j.xgen.2023.100261

Journal Article

DZNE-2023-00387

The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.

Bressan, E. (First author)DZNE* ; Reed, X. ; Bansal, V.DZNE* ; Hutchins, E. ; Cobb, M. M. ; Webb, M. G. ; Alsop, E. ; Grenn, F. P. ; Illarionova, A.DZNE* ; Savytska, N.DZNE* ; Violich, I. ; Bröer, S.DZNE* ; Alves Fernandes, N. R.DZNE* ; Sivakumar, R. ; Beilina, A. ; Billingsley, K. J. ; Berghausen, J. ; Pantazis, C. B. ; Pitz, V. ; Patel, D. ; Daida, K. ; Meechoovet, B. ; Reiman, R. ; Courtright-Lim, A. ; Logemann, A. ; Antone, J. ; Barch, M. ; Kitchen, R. ; Li, Y. ; Dalgard, C. L. ; Center, A. G. (Collaboration Author) ; Rizzu, P.DZNE* ; Hernandez, D. M. G.Extern* ; Hjelm, B. E. ; Nalls, M. ; Gibbs, J. R. ; Finkbeiner, S. ; Cookson, M. R. ; Van Keuren-Jensen, K. ; Craig, D. W. ; Singleton, A. B. ; Heutink, P.DZNE* ; Blauwendraat, C.Extern*

2023
Elsevier Amsterdam

Cell genomics 3(3), 100261 (2023) [10.1016/j.xgen.2023.100261]

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Please use a persistent id in citations: doi:10.1016/j.xgen.2023.100261

Abstract: The Foundational Data Initiative for Parkinson Disease (FOUNDIN-PD) is an international collaboration producing fundamental resources for Parkinson disease (PD). FOUNDIN-PD generated a multi-layered molecular dataset in a cohort of induced pluripotent stem cell (iPSC) lines differentiated to dopaminergic (DA) neurons, a major affected cell type in PD. The lines were derived from the Parkinson's Progression Markers Initiative study, which included participants with PD carrying monogenic PD variants, variants with intermediate effects, and variants identified by genome-wide association studies and unaffected individuals. We generated genetic, epigenetic, regulatory, transcriptomic, and longitudinal cellular imaging data from iPSC-derived DA neurons to understand molecular relationships between disease-associated genetic variation and proximate molecular events. These data reveal that iPSC-derived DA neurons provide a valuable cellular context and foundational atlas for modeling PD genetic risk. We have integrated these data into a FOUNDIN-PD data browser as a resource for understanding the molecular pathogenesis of PD.

Keyword(s): Parkinson disease ; dopaminergic neurons ; genetic risk ; induced pluripotent stem cell ; omics single-cell RNA sequencing single-cell ATAC sequencing SNCA LRRK2 GBA1